Canonical Allele Identifier: CA486141335
Gene: FANCM HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.45654425A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45185222A>T , CM000676.2:g.45185222A>T GRCh38
NC_000014.8:g.45654425A>T , CM000676.1:g.45654425A>T GRCh37
NC_000014.7:g.44724175A>T NCBI36
NG_007417.1:g.54290A>T , LRG_502:g.54290A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000554809.6:c.2733A>T ENSP00000450632.2:p.Val911=
ENST00000555484.2:c.299A>T
ENST00000556250.6:c.4314A>T ENSP00000452033.2:p.Val1438=
ENST00000557110.2:c.299A>T
ENST00000696642.1:c.*3332A>T ENSP00000512775.1:n.*3332A>T
ENST00000696644.1:n.257A>T
ENST00000696645.1:n.411A>T
ENST00000696647.1:c.4521A>T ENSP00000512778.1:p.Val1507=
ENST00000696648.1:c.*2546A>T ENSP00000512779.1:n.*2546A>T
ENST00000696649.1:c.4365A>T ENSP00000512780.1:p.Val1455=
ENST00000696650.1:n.4469A>T
ENST00000696659.1:c.2519A>T
ENST00000696663.1:c.3452A>T
ENST00000696664.1:c.3353A>T
ENST00000696665.1:c.299A>T
ENST00000696675.1:c.*277A>T ENSP00000512799.1:n.*277A>T
ENST00000696683.1:c.3338A>T
ENST00000696684.1:c.3338A>T
ENST00000696685.1:c.3338A>T
ENST00000696686.1:n.1258A>T
ENST00000267430.10:c.4521A>T MANE Select ENSP00000267430.5:p.Val1507=
ENST00000267430.9:c.4521A>T ENSP00000267430.5:p.Val1507=
ENST00000542564.6:c.4443A>T ENSP00000442493.2:p.Val1481=
ENST00000554809.5:c.1318A>T
ENST00000555013.1:n.354A>T
ENST00000556250.5:c.3069A>T ENSP00000452033.1:p.Val1023=
NM_001308133.1:c.4443A>T NP_001295062.1:p.Val1481=
NM_020937.2:c.4521A>T , LRG_502t1:c.4521A>T NP_065988.1:p.Val1507=
NM_020937.3:c.4521A>T NP_065988.1:p.Val1507=
XM_011537034.1:c.4536A>T XP_011535336.1:p.Val1512=
XM_011537035.1:c.4458A>T XP_011535337.1:p.Val1486=
XM_011537036.1:c.4536A>T XP_011535338.1:p.Val1512=
XM_011537037.1:c.2550A>T XP_011535339.1:p.Val850=
XM_011537034.2:c.4536A>T XP_011535336.1:p.Val1512=
XM_011537035.3:c.4458A>T XP_011535337.1:p.Val1486=
XM_011537037.3:c.2550A>T XP_011535339.1:p.Val850=
XM_017021523.1:c.4536A>T XP_016877012.1:p.Val1512=
XM_017021524.2:c.3573A>T XP_016877013.1:p.Val1191=
XM_017021525.2:c.3351A>T XP_016877014.1:p.Val1117=
XM_017021526.2:c.3351A>T XP_016877015.1:p.Val1117=
XM_017021527.1:c.3336A>T XP_016877016.1:p.Val1112=
XR_001750470.1:n.4628A>T
XR_001750471.2:n.4613A>T
XR_001750472.1:n.4665A>T
NM_020937.4:c.4521A>T MANE Select NP_065988.1:p.Val1507=
NM_001308133.2:c.4443A>T NP_001295062.1:p.Val1481=